Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors
Joint Authors
Ramírez-Rentería, Claudia
Luis, Balderrama-Bañares Jorge
Portocarrero-Ortiz, Lesly
Terrones-Lozano, Alejandro
Hernández-Hernández, Alan
Nathal Vera, Edgar
Guinto-Nishimura, Gerardo Yoshiaki
Serna-Soto, Judith de la
Reza-Albarran, Alfredo Adolfo
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-02-02
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Introduction.
Pheochromocytomas (Pheo) and paragangliomas (PGL) are rare neuroendocrine tumors arising from chromaffin cells of the adrenal medulla and from the extra-adrenal autonomic paraganglia, respectively.
Only 1–3% of head and neck PGL (HNPGL) show elevated catecholamines, and at least 30% of Pheo and PGL (PCPG) are associated with genetic syndromes caused by germline mutations in tumor suppressor genes and proto-oncogenes.
Clinical Case.
A 33-year-old man with a past medical history of resection of an abdominal PGL at the age of eleven underwent a CT scan after a mild traumatic brain injury revealing an incidental brain tumor.
The diagnosis of a functioning PGL was made, and further testing was undertaken with a PET-CT with 68Ga-DOTATATE, SPECT-CT 131-MIBG, and genetic testing.
Discussion and Conclusion.
The usual clinical presentation of functioning PCPG includes paroxistic hypertension, headache, and diaphoresis, sometimes with a suggestive family history in 30–40% of cases.
Only 20% of PGL are located in head and neck, of which only 1–3% will show elevated catecholamines.
Metastatic disease is present in up to 50% of cases, usually associated with a hereditary germline mutation.
However, different phenotypes can be observed depending on such germline mutations.
Genetic testing is important in patients with PCPG since 31% will present a germline mutation.
In this particular patient, an SDHB gene mutation was revealed, which can drastically influence the follow-up plan and the genetic counsel offered.
A multidisciplinary approach is mandatory for every patient presenting with PCPG.
American Psychological Association (APA)
Terrones-Lozano, Alejandro& Hernández-Hernández, Alan& Nathal Vera, Edgar& Guinto-Nishimura, Gerardo Yoshiaki& Luis, Balderrama-Bañares Jorge& Ramírez-Rentería, Claudia…[et al.]. 2020. Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1147061
Modern Language Association (MLA)
Terrones-Lozano, Alejandro…[et al.]. Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors. Case Reports in Endocrinology No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1147061
American Medical Association (AMA)
Terrones-Lozano, Alejandro& Hernández-Hernández, Alan& Nathal Vera, Edgar& Guinto-Nishimura, Gerardo Yoshiaki& Luis, Balderrama-Bañares Jorge& Ramírez-Rentería, Claudia…[et al.]. Current Approach of Functioning Head and Neck Paragangliomas: Case Report of a Young Patient with Multiple Asynchronous Tumors. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1147061
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147061